IPO
MCID: INT072
MIFTS: 59

Intestinal Pseudo-Obstruction (IPO)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intestinal Pseudo-Obstruction

MalaCards integrated aliases for Intestinal Pseudo-Obstruction:

Name: Intestinal Pseudo-Obstruction 12 76 53 25 29 55 6 44 15 73
Chronic Idiopathic Intestinal Pseudo-Obstruction 25 37
Pseudo-Obstruction of Intestine 12 25
Familial Visceral Neuropathy 25 73
Familial Visceral Myopathy 25 59
Hollow Visceral Myopathy 53 73
Paralytic Ileus 25 73
Congenital Idiopathic Intestinal Pseudoobstruction 73
Pseudointestinal Obstruction Syndrome 25
Hereditary Hollow Visceral Myopathy 59
Familial Hollow Visceral Myopathy 59
Congenital Short Bowel Syndrome 25
Megaduodenum and/or Megacystis 59
Intestinal Pseudoobstruction 53
Intestine Pseudoobstruction 12
Visceral Myopathy, Familial 73
Pseudoobstructive Syndrome 25
Enteric Neuropathy 25
Ciip 25
Cipo 25
Ipo 25

Characteristics:

Orphanet epidemiological data:

59
familial visceral myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



Summaries for Intestinal Pseudo-Obstruction

NIH Rare Diseases : 53 Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate.

MalaCards based summary : Intestinal Pseudo-Obstruction, also known as chronic idiopathic intestinal pseudo-obstruction, is related to chronic intestinal pseudoobstruction and congenital short bowel syndrome, and has symptoms including vomiting An important gene associated with Intestinal Pseudo-Obstruction is CLMP (CXADR Like Membrane Protein), and among its related pathways/superpathways are MAPK signaling pathway and Focal adhesion. The drugs Pharmaceutical Solutions and Cola have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, small intestine and colon, and related phenotypes are joint stiffness and umbilical hernia

Genetics Home Reference : 25 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).

Wikipedia : 76 Intestinal pseudo-obstruction is a clinical syndrome caused by severe impairment in the ability of the... more...

Related Diseases for Intestinal Pseudo-Obstruction

Diseases in the Intestinal Obstruction family:

Intestinal Pseudo-Obstruction

Diseases related to Intestinal Pseudo-Obstruction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 233)
# Related Disease Score Top Affiliating Genes
1 chronic intestinal pseudoobstruction 33.7 ACTG2 SOX10
2 congenital short bowel syndrome 32.4 CLMP FLNA
3 short bowel syndrome 30.7 CLMP FLNA SST
4 hypoganglionosis 30.0 RET SYP
5 hypertrophic pyloric stenosis 30.0 RET SST
6 pancreatic somatostatinoma 29.9 SST SYP
7 paraganglioma 29.8 RET SST SYP
8 multiple endocrine neoplasia, type iib 29.8 EDNRB RET
9 hydrocephalus 29.6 FLNA L1CAM SYP
10 megacolon 29.5 EDNRB RET SOX10 TLX2
11 intestinal obstruction 29.4 EDNRB FLNA RET SGO1
12 constipation 29.4 EDNRB FLNA RET SST
13 hirschsprung disease 1 29.3 EDNRB L1CAM RET SOX10 SYP
14 paralytic ileus 12.7
15 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth 12.4
16 natal teeth, intestinal pseudoobstruction and patent ductus 12.3
17 myopathic intestinal pseudoobstruction 12.2
18 unclassified intestinal pseudoobstruction 12.2
19 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 12.1
20 visceral myopathy 11.7
21 chronic atrial and intestinal dysrhythmia 11.6
22 mitochondrial neurogastrointestinal encephalopathy disease 11.6
23 visceral myopathy, familial, with external ophthalmoplegia 11.4
24 mungan syndrome 11.3
25 visceral neuropathy, familial, autosomal recessive 11.2
26 visceral neuropathy familial 11.2
27 actg2-related disorders 11.2
28 visceral neuropathy, familial, autosomal dominant 11.1
29 lupus erythematosus 10.6
30 systemic lupus erythematosus 10.6
31 scleroderma, familial progressive 10.5
32 myopathy 10.5
33 amyloidosis 10.4
34 neuropathy 10.4
35 peritonitis 10.4
36 appendicitis 10.3
37 thymoma 10.3
38 leukemia 10.3
39 strongyloidiasis 10.3
40 intussusception 10.3
41 intestinal volvulus 10.3
42 intestinal impaction 10.3
43 kawasaki disease 10.2
44 hypothyroidism 10.2
45 myasthenia gravis 10.2
46 myasthenia gravis congenital 10.2
47 polymyositis 10.2
48 lung cancer 10.1
49 pneumatosis cystoides intestinalis 10.1
50 viral infectious disease 10.1

Graphical network of the top 20 diseases related to Intestinal Pseudo-Obstruction:



Diseases related to Intestinal Pseudo-Obstruction

Symptoms & Phenotypes for Intestinal Pseudo-Obstruction

Human phenotypes related to Intestinal Pseudo-Obstruction:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
2 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
3 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
5 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
6 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
7 aplasia/hypoplasia of the abdominal wall musculature 59 32 frequent (33%) Frequent (79-30%) HP:0010318
8 narrow chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000774
9 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
10 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
11 broad forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000337
12 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
13 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
14 round face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000311
15 anonychia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001798
16 vesicoureteral reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0000076
17 hyperparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000843
18 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
19 abdominal distention 59 32 frequent (33%) Frequent (79-30%) HP:0003270
20 hydroureter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000072
21 abdominal situs inversus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003363
22 megacystis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000021
23 malformation of the heart and great vessels 59 Occasional (29-5%)
24 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

UMLS symptoms related to Intestinal Pseudo-Obstruction:


vomiting

MGI Mouse Phenotypes related to Intestinal Pseudo-Obstruction:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CLMP EDNRB FLNA L1CAM RET SGO1
2 digestive/alimentary MP:0005381 9.91 CLMP EDNRB FLNA MYH11 RET SGO1
3 growth/size/body region MP:0005378 9.81 CLMP EDNRB FLNA L1CAM MYH11 RET
4 mortality/aging MP:0010768 9.7 CLMP EDNRB FLNA L1CAM MYH11 RAD21
5 nervous system MP:0003631 9.28 EDNRB FLNA L1CAM RET SOX10 SST

Drugs & Therapeutics for Intestinal Pseudo-Obstruction

Drugs for Intestinal Pseudo-Obstruction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2,Not Applicable
2 Cola Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section Completed NCT01131416 Phase 2, Phase 3
2 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer Withdrawn NCT01389986 Phase 2, Phase 3
3 Daikenchuto for Intestinal Dysmotility and Prevention of Postoperative Paralytic Ielus After Pancreaticoduodenectomy Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
4 Efficacy Study of Prucalopride to Treat Chronic Intestinal Pseudo-Obstruction (CIP) Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
5 Acupuncture to Prevent Postoperative Bowel Paralysis (Paralytic Ileus) Terminated NCT00065234 Phase 2
6 Therapeutic Oxygen for Gastrointestinal Atony (TOGA) Recruiting NCT03386136 Phase 1 100% Oxygen
7 Efficacy and Safety of Fecal Microbiota Transplantation for Chronic Intestinal Pseudo-obstruction Completed NCT02731183 Not Applicable
8 Small Bowel Motor Impairment in Scleroderma: Results of a Prospective 5-year Manometric Follow-up Completed NCT00213460
9 Rib Raising for Post-operative Ileus Recruiting NCT03662672 Not Applicable
10 Effects of Laser Acupuncture Therapy on Paralytic Ileus Recruiting NCT03041675 Not Applicable
11 Neuro-Immune Interactions in the Gut Recruiting NCT03617640
12 Measurement of Body Composition by Air Displacement Plethysmography in Pediatric Intestinal Failure Patients Recruiting NCT02561819
13 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815 Not Applicable

Search NIH Clinical Center for Intestinal Pseudo-Obstruction

Cochrane evidence based reviews: intestinal pseudo-obstruction

Genetic Tests for Intestinal Pseudo-Obstruction

Genetic tests related to Intestinal Pseudo-Obstruction:

# Genetic test Affiliating Genes
1 Intestinal Pseudo-Obstruction 29 CLMP

Anatomical Context for Intestinal Pseudo-Obstruction

MalaCards organs/tissues related to Intestinal Pseudo-Obstruction:

41
Smooth Muscle, Small Intestine, Colon, Lung, Liver, Kidney, Heart

Publications for Intestinal Pseudo-Obstruction

Articles related to Intestinal Pseudo-Obstruction:

(show top 50) (show all 510)
# Title Authors Year
1
Intestinal pseudo-obstruction as the initial manifestation of systemic lupus erythematosus. ( 30291036 )
2019
2
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation. ( 30407211 )
2019
3
Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations From an ESPGHAN-Led Expert Group. ( 29570554 )
2018
4
Systemic sclerosis and sarcoidosis: a rare case of chronic intestinal pseudo-obstruction. ( 29699402 )
2018
5
Loss of alpha-smooth muscle actin expression associated with chronic intestinal pseudo-obstruction in a young Miniature Bull Terrier. ( 29690886 )
2018
6
Gastrointestinal: A rare case of concomitant type III achalasia and chronic idiopathic intestinal pseudo-obstruction. ( 29469232 )
2018
7
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. ( 29781137 )
2018
8
Chronic Intestinal Pseudo-obstruction. ( 29487492 )
2018
9
The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction. ( 29610160 )
2018
10
Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction. ( 29877952 )
2018
11
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum. ( 29660409 )
2018
12
Multimodal Surgical Approach for Adult Patients With Chronic Intestinal Pseudo-Obstruction: Clinical and Psychosocial Long-term Outcomes. ( 29407314 )
2018
13
Chronic intestinal pseudo-obstruction due to al amyloidosis: a case report and literature review. ( 30232705 )
2018
14
Long-term treatment with linaclotide of intestinal pseudo-obstruction secondary to Ehlers-Danlos syndrome. ( 30470553 )
2018
15
Intestinal pseudo-obstruction caused by herpes zoster: Case report and pathophysiology. ( 29988868 )
2018
16
Clinical characteristics of lupus enteritis in Japanese patients: the large intestine-dominant type has features of intestinal pseudo-obstruction. ( 30028259 )
2018
17
Chronic Intestinal Pseudo-Obstruction in Systemic Sclerosis: An Uncommon Presentation. ( 30057521 )
2018
18
Chronic intestinal pseudo-obstruction due to Strongyloides stercoralis. ( 30101070 )
2018
19
A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome. ( 30147885 )
2018
20
Acute Intermittent Porphyria Presented with Acute Intestinal Pseudo-obstruction. ( 30148113 )
2018
21
Causes and prognosis of chronic intestinal pseudo-obstruction in 48 subjects: A 10-year retrospective case series. ( 30200110 )
2018
22
The chronic intestinal pseudo-obstruction subtype has prognostic significance in patients with severe gastrointestinal dysmotility related intestinal failure. ( 30290972 )
2018
23
Deletion of IP3R1 by Pdgfrb-Cre in mice results in intestinal pseudo-obstruction and lethality. ( 30382364 )
2018
24
A Report of Chronic Intestinal Pseudo-obstruction Related to Systemic Lupus Erythematosus. ( 30519633 )
2018
25
Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? ( 28377888 )
2017
26
Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options. ( 27683196 )
2017
27
Successful treatment of prokinetic-resistant intestinal pseudo-obstruction and pneumatosis cystoides intestinalis in systemic sclerosis with metronidazole. ( 28213637 )
2017
28
A frequently missed entity in systemic lupus erythematosus (SLE): Intestinal pseudo-obstruction (IpsO). ( 29308779 )
2017
29
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant. ( 29072330 )
2017
30
Chronic intestinal pseudo-obstruction: Progress in management? ( 29143474 )
2017
31
Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation. ( 28458318 )
2017
32
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. ( 28422808 )
2017
33
Immune-related intestinal pseudo-obstruction associated with nivolumab treatment in a lung cancer patient. ( 29067858 )
2017
34
Successful treatment of a refractory dysbiotic intestinal pseudo-obstruction in a patient with systemic sclerosis-polymyositis overlap syndrome by intravenous immunoglobulin administration possibly related to gut flora normalisation. ( 28229828 )
2017
35
Respiratory Failure Due to Intestinal Pseudo-obstruction in Systemic Sclerosis. ( 28277347 )
2017
36
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ( 28927774 )
2017
37
Multiple myeloma associated intestinal amyloidosis: intestinal pseudo-obstruction falsely considered as an ascites. ( 28875827 )
2017
38
Amyloidosis: An Unusual Cause of Intestinal Pseudo-Obstruction. ( 28711693 )
2017
39
Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction. ( 28351420 )
2017
40
Intestinal Pseudo-Obstruction as the Presenting Manifestation of Kawasaki Disease. ( 28417227 )
2017
41
Chronic Intestinal Pseudo-obstruction and Orthostatic Hypotension Associated with Small Cell Lung Cancer that Improved with Tumor Reduction after Chemoradiotherapy. ( 28883237 )
2017
42
Efficacy of percutaneous endoscopic gastro-jejunostomy (PEG-J) decompression therapy for patients with chronic intestinal pseudo-obstruction (CIPO). ( 28631871 )
2017
43
Pharmacotherapy for pediatric chronic intestinal pseudo-obstruction: Nationwide survey in Japan. ( 27862707 )
2017
44
Acute lupus pneumonitis followed by intestinal pseudo-obstruction in systemic lupus erythematosus: A case report. ( 27347044 )
2016
45
Utility of Octreotide in Advancing Enteral Feeds in Children with Chronic Intestinal Pseudo-Obstruction. ( 27520652 )
2016
46
Chronic Intestinal Pseudo-Obstruction: Clinical and Manometric Characteristics in the Chilean Population. ( 27669829 )
2016
47
Smooth-Muscle Myopathy in Systemic Lupus Erythematosus Presenting With Intestinal Pseudo-Obstruction. ( 27694873 )
2016
48
Surgical abdomen with intestinal pseudo-obstruction as presenting feature of atypical Kawasaki disease. ( 27654849 )
2016
49
Serial Frozen Fecal Microbiota Transplantation in the Treatment of Chronic Intestinal Pseudo-obstruction: A Preliminary Study. ( 27840368 )
2016
50
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation. ( 27273837 )
2016

Variations for Intestinal Pseudo-Obstruction

ClinVar genetic disease variations for Intestinal Pseudo-Obstruction:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh37 Chromosome 11, 122955378: 122955378
2 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh38 Chromosome 11, 123084670: 123084670
3 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh37 Chromosome 11, 122945410: 122945410
4 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh38 Chromosome 11, 123074702: 123074702
5 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh37 Chromosome 11, 122953808: 122953808
6 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh38 Chromosome 11, 123083100: 123083100
7 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh37 Chromosome 11, 122955237: 122955237
8 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh38 Chromosome 11, 123084529: 123084529
9 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh38 Chromosome 11, 123083728: 123083728
10 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh37 Chromosome 11, 122954436: 122954436

Expression for Intestinal Pseudo-Obstruction

Search GEO for disease gene expression data for Intestinal Pseudo-Obstruction.

Pathways for Intestinal Pseudo-Obstruction

Pathways related to Intestinal Pseudo-Obstruction according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Focal adhesion hsa04510

Pathways related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.51 ACTG2 MYH11
2 10.34 ACTG2 FLNA MYH11

GO Terms for Intestinal Pseudo-Obstruction

Cellular components related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.26 FLNA L1CAM RET SST
2 myosin filament GO:0032982 8.62 ACTG2 MYH11

Biological processes related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.37 EDNRB SOX10
2 neural crest cell migration GO:0001755 9.33 EDNRB RET SOX10
3 response to pain GO:0048265 9.32 EDNRB RET
4 melanocyte differentiation GO:0030318 9.26 EDNRB SOX10
5 posterior midgut development GO:0007497 8.96 EDNRB RET
6 enteric nervous system development GO:0048484 8.92 EDNRB RET SOX10 TLX2

Molecular functions related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.8 RAD21 SOX10 TLX2

Sources for Intestinal Pseudo-Obstruction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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